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Results for “Genetic correlation”

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PubMed2000

Parameter estimates for direct and maternal genetic effects on yearling, eighteen-month, and slaughter weights of Korean native cattle.

Data collected by the National Livestock Research Institute of the Rural Development Administration of Korea were used to estimate genetic parameters for yearling (YWT, n = 5,848), 18-mo (W18, n = 4,585), and slaughter (SWT, n = 2,279) weights for Korean Native cattle. Nine animal models were used to obtain REML estimates of genetic parameters: DP-2 included genetic, uncorrelated dam, and residual random effects; DQ-2 included genetic, sire x region x year-season interaction, and residual random effects; DPQ-2 was based on DQ-2 but included both interaction and dam effects; DMP-2 was based on DP-2 but with dam effect partitioned to include maternal genetic and permanent environmental effects; and DMPQ-2 was based on DMP-2 but also included sire interaction effects. Those five models included two fixed factors: region x year-season and age of dam x sex effects. Models DP-3, DQ-3, DPQ-3, and DMPQ-3 were based on DP-2, DQ-2, DPQ-2, and DMPQ-2 but included as a third fixed factor whether or not identification of the sire was known. Estimates of heritability with DMPQ-3 for YWT, with DPQ-3 for W18 and SWT when analyzed with single-trait analyses were .14, .11, and .17, respectively, and were nearly the same with bivariate analyses. Estimate of maternal heritability for YWT from single-trait analysis was .04, with estimates for other traits near zero. For bivariate analyses, the estimate for YWT was .01. With single trait analysis, estimate of the direct-maternal genetic correlation for YWT was negative (-.81). Estimates of direct genetic correlations between YWT and W18, YWT and SWT, and W18 and SWT were .99, 1.00, and .97, respectively. Estimates of environmental correlations varied from .60 to .81; the largest was between W18 and SWT. Including a fixed factor for whether sire identification was missing or not missing reduced the estimate of heritability for slaughter weight. The results suggest that the sire x region x year-season interaction is important for yearling weight and may be needed in a model for slaughter weight. Maternal effects may be of slight importance for yearling weight but of no importance for W18 and SWT. Models for national cattle evaluations for Korean Native cattle for YWT should be considered that include maternal genetic and permanent environmental as well as sire x region x year-season interaction effects, but those effects seem not to be needed for models for W18 and SWT. Not much reranking of sires occurred when ranked was based on the different models for W18 and SWT.

Animals↗

PubMed2004

Environment-dependent survival of Drosophila melanogaster: a quantitative genetic analysis.

Summary Survival under starvation conditions was investigated in relationship to survival when food was present because these traits could be linked by evolutionary history. Recombinant inbred lines derived from natural populations of Drosophila melanogaster were used to test genetic correlations and architecture of these survival traits. Sexes were genetically correlated within traits and there was significant correlation between survival traits. A number of quantitative trait loci (QTLs) were present for starvation survival and/or survival on food. In general, the QTL effects were consistent for sexes and environments. QTL effects were found on each major chromosome, but the major effects were largely localized on the second chromosome. Importantly, the 'four-allele' progenitor of the recombinant inbred lines used in the present study allowed the sign and magnitude of effects to be assigned to linkage groups. One such linkage group on the second chromosome conferred starvation resistance and longevity, supporting the hypothesis of an association between starvation resistance and lifespan.

Analysis of Variance↗

PubMed2006

Genetic parameters and evaluation of rear legs (rear view) for Brown Swiss and Guernseys.

Genetic parameters were estimated for rear legs (rear view; RLRV) and 15 current linear type traits of Brown Swiss and Guernsey dairy cattle. The Brown Swiss Cattle Breeders' Association of the USA and the American Guernsey Association began scoring RLRV in 2004. For Brown Swiss, 8,502 records were available for 7,676 cows in 417 herds; Guernsey data included 5,437 records for 4,749 cows in 229 herds. Nine unknown-parent groups were defined for each breed, each with 2 birth years. The model included fixed effects for the interaction of herd, appraisal date, and parity; appraisal age within parity; and lactation stage within parity and random effects for animal, permanent environment, and residual error. The multitrait analysis for RLRV and the 15 linear type traits used canonical transformation, multiple diagonalization, and a decelerated expectation-maximization REML algorithm. For Brown Swiss, heritability was 0.102 for RLRV and ranged from 0.099 for rear legs (side view) to 0.453 for stature. For Guernseys, heritability ranged from 0.078 for RLRV to 0.428 for stature. For Brown Swiss, the highest genetic correlation with RLRV was 0.71 for rear udder width; the most negative correlation was -0.19 with rump angle. For Guernseys, the highest genetic correlations with RLRV were 0.43 for rear udder width and 0.42 for body depth; the most negative correlation was -0.46 with rear legs (side view). With heritability near 0.10, RLRV should be useful in selection for improved locomotion. Release of genetic evaluations for RLRV began in May 2006 for Brown Swiss and Guernseys.

Animals↗

PubMed2006

Genetic determination and correlation of body weight and body mass index (BMI) and cross-sectional geometric parameters of the femoral neck.

INTRODUCTION: This study aimed to examine the genetic determination of body weight, body mass index (BMI) and cross-sectional geometric parameters of the femoral neck including cross-sectional area (CSA), cortical thickness (CT), sectional modulus (Z), and buckling ratio (BR), and to test the genetic correlation between body weight/BMI and the femoral neck geometric parameters. METHODS: A total of 929 healthy subjects from 292 Chinese nuclear families was included. Femoral neck geometric parameters were estimated from bone mineral density (BMD) and bone area which were measured by dual energy X-ray absorptiometry (DXA). RESULTS: The heritability (h(2)) estimate values were 0.643, 0.626, 0.626, 0.674, 0.405, and 0.615 for body weight, BMI, CSA, CT, Z, and BR, respectively. Body weight was significantly correlated with bone geometric parameters (p</=0.001) with genetic correlation (rho(G)) values of 0.551, 0.457, 0.571, and -0.385, and bivariate heritability (rho2G) values of 0.304, 0.209, 0.326, and 0.148 for CSA, CT, Z, and BR, respectively. Similar correlations (p</=0.001) were observed between BMI and bone geometric parameters, with rho(G) values of 0.446, 0.432, 0.334, and -0.362, and (rho2G) values of 0.199, 0.187, 0.112, and 0.131 for CSA, CT, Z, and BR, respectively. CONCLUSION: In summary, our study suggested that body weight, BMI, and femoral neck geometry were under strong genetic determination. The strong genetic correlations suggested that the genetic factors of bone geometry may be overlapped with those of body weight and BMI.

Absorptiometry, Photon↗

PubMed2006

Genetic evaluation and best prediction of lactation persistency.

Cows with high persistency tend to produce less milk than expected at the beginning of lactation and more than expected at the end. Best prediction of persistency was calculated as a function of a trait-specific standard lactation curve and a linear regression of test-day deviations on days in milk. Regression coefficients were deviations from a balance point to make yield and persistency phenotypically uncorrelated. The objectives of this study were to calculate (co)variance components and breeding values for best predictions of persistency of milk (PM), fat (PF), protein (PP), and SCS (PSCS) in Holstein cows. Data included 8,682,138 lactations from 4,375,938 cows calving since 1997, and 39,354 sires were evaluated. Sire estimated breeding values (EBV) for PM, PF, and PP were similar and ranged from -0.70 to 0.75 for PM; EBV for PSCS ranged from -0.37 to 0.28. Regressions of sire EBV on birth year were near zero (<0.003) but positive for PM, PF, and PP, and negative for PSCS. Genetic correlations of PM, PF, and PP with PSCS were moderate and favorable, indicating that increasing SCS decreases yield traits, as expected. Genetic correlations among yield and persistency were low to moderate and ranged from -0.09 (PSCS) to 0.18 (PF). This definition of persistency may be more useful than those used in test-day models, which are often correlated with yield. Routine genetic evaluations for persistency are feasible and may allow for improved predictions of yield traits. As calving intervals increase, persistency may have greater value.

Animals↗

PubMed1976

Genetic and environmental correlations between brain weight and maze learning in inbred strains of mice and their F1 hybrids.

The relationships among body weight, cerebellum weight, cerebrum weight, maze-learning ability in a double T-maze, and discrimination learning in a Y-maze were studied in six inbred strains of mice and some of their F1 hybrids. The subjects were 131 male albino mice from 14 genotypic groups: five inbred groups and nine groups of crossbred offspring. Intra- and intergroup correlations were computed between all possible pairs of the anatomical and behavioral traits. A significant difference between the intragroup and intergroup correlations for any pair of variables was taken to indicate the presence of a genetic correlation between the two variables. On this basis, positive genetic correlations were indicated between T-maze learning ability and Y-maze learning ability, between body weight and T-maze learning ability, and possibility between body weight and both cerebellum and cerebrum weight and between cerebrum weight and T-maze learning ability. Negative genetic correlations were indicated between cerebellum weight and running time in both mazes and between total number of successes in the Y-maze and Y-maze running time.

Animals↗

PubMed1996

Genetic influences on beef longissimus palatability in charolais- and limousin-sired steers and heifers.

Random matings of 10 Charolais sires and eight Limousin sires to crossbred cows produced 392 steers and heifers that were used to evaluate genetic influences on beef palatability. Longissimus lumborum steaks were measured for shear force at 1, 4, 7, 14, 21, and 35 d postmortem and for taste panel attributes at 14 d postmortem. Longer postmortem aging periods resulted in lower (P < .05) shear force values for progeny from all 18 sires. Shear force variation among sires did not diminish during postmortem aging; however, shear force variation among progeny within a sire decreased during postmortem aging. Median within-breed heritability estimates from Method-R were .33 for shear force, .49 for 24-h calpastatin activity, and .18 for marbling score. All taste panel attribute heritability estimates were very low. Solid evidence existed for a very high within-breed genetic correlation between calpastatin activity and shear force. However, the across-breed genetic correlation between marbling and shear force seemed to be higher than the correlation between calpastatin activity and shear force. Very few antagonistic genetic relationships existed between production/carcass traits and palatability traits.

Aging↗

PubMed1993

Correlations for genetic expression for growth of calves of Hereford and Angus dams using a multivariate animal model.

The purpose of this study was to estimate the correlation between the expression of genes from sires in purebred and crossbred progeny (rPC) and in Hereford and Angus F1 calves (rHA). Performance traits were weights at birth, 200 d, and 365 d. Progeny from Hereford, Polled Hereford, and Angus bulls mated to Hereford or Angus cows were used to estimate rPC. Progeny from Charolais, Shorthorn, Simmental, Limousin, Maine-Anjou, Chianina, Gelbvieh, Tarentaise, and Salers bulls mated to Hereford or Angus cows were used to estimate rHA. Performances in purebreds (P) and crosses (C) or in Hereford (H) and Angus (A) F1 calves were treated as separate traits. A multivariate animal model with birth year-cow age-sex subclasses, random correlated direct and maternal additive genetic effects, and maternal permanent environmental effects was used. Separate analyses were done by breed of sire. A derivative-free algorithm was used to obtain REML estimates of (co)variance components. Weighted averages across breeds of estimates of heritability for P, C, H, and A were, respectively, .61, .51, .47, and .40 for birth weight, .41, .46, .37, and .34 for weaning weight, and .50, .49, .42, and .46 for yearling weight. Estimates of rPC ranged from .88 to .97, .55 to .94, and .68 to .86 for weights at birth, 200 d, and 365 d, respectively. Estimates of rHA ranged from .43 to .99, .56 to .95, and .50 to .98 for weights at birth, 200 d, and 365 d, respectively. Weighted averages of estimates of rPC and rHA across sire breeds were, respectively, .93 and .85 for birth weight, .77 and .73 for weaning weight, and .76 and .86 for yearling weight. These results indicate that ranking of sires producing purebreds or crosses, or crossbred calves from different breeds of dams, is approximately the same for birth and yearling weights, but some reranking might occur for weaning weight.

Animals↗

PubMed2026

Revealing the Shared Genetic Architecture of Metabolic Dysfunction-Associated Steatotic Liver Disease-Related Traits Through Genomic Structural Equation Modeling.

Although individual traits related to metabolic dysfunction-associated steatotic liver disease (MASLD) have been investigated through large-scale genome-wide association studies (GWASs), the shared genetic susceptibility across these traits remains unclear. We therefore conducted a multivariate GWAS of key MASLD-related traits to elucidate their common genetic architecture. We applied genomic structural equation modeling to model a latent genetic factor (MASLD-F) underlying genetically correlated MASLD-related traits, leveraging their GWAS-derived genetic correlations. We then performed functional annotations, including fine-mapping, transcriptome-wide association study, and cell- and tissue-type-specific enrichment analyses, and conducted Mendelian randomization analyses to identify modifiable risk factors. Our multivariate MASLD-F GWAS identified 50 independent variants across 48 genomic loci. Transcriptomic imputation identified several MASLD-F-associated genes, including ARNTL, NPC1, BTBD10, VDAC2, TSKU, SFMBT1, and ABHD17C. We observed significant enrichment of MASLD-F-related genetic signals predominantly in brain tissues, pancreatic islets, and the adrenal gland. Additionally, six modifiable risk factors and four modifiable protective factors for MASLD-F were identified. These findings reveal a complex shared genetic architecture underlying MASLD components, thereby expanding our understanding of disease pathogenesis and providing novel insights for precision medicine and public health interventions.

Humans↗

PubMed1995

Estimation of genetic parameters for litter size in Canadian Yorkshire and Landrace swine with each parity of farrowing treated as a different trait.

Genetic variances and covariances for the number of pigs born in total (NOBT), the number of pigs born alive (NOBA), and the number of weaned pigs (NOW) were estimated by REML under an animal model. Data on 30,357 and 42,041 litters born between 1977 and 1992 from Yorkshire and Landrace sows, respectively, were obtained from the Quebec Record of Performance sow productivity program. Data of the first four parities of litter size were used for four different analyses under an animal model: univariate analyses with direct genetic effects only, univariate analyses with maternal and direct genetic effects , seri0s of bivariate analyses with each parity treated as a different trait, and a series of bivariate analyses between NOBT, NOBA, and NOW within each parity. Heritabilities of different parities from univariate analyses under a direct genetic effects model ranged from .10 to .15, .09 to .14, and .06 to .08 for NOBT, NOBA, and NOW, respectively. Estimates of direct heritability from bivariate analyses between parties were consistent with estimates from univariate analyses in Landrace but not in Yorkshire. Genetic correlations between first and secondary parity in Yorkshire were .59, .49, and .17 for NOBT, NOBA, and NOW, and in Landrace were .90, .93, and .81, respectively. Influence of maternal effects on moderate correlations between first and secondary parity in Yorkshire was suggested. Genetic correlations averaged over all parities between NOBA and NOBT or NOW were .97 and .65 in Yorkshire and .97 and .82 in Landrace. A multiple-trait animal model with parities treated as different traits was recommended.

Aging↗

PubMed2007

Pupal period and adult size in Drosophila melanogaster: a cautionary tale of contrasting correlations between two sexually dimorphic traits.

Sexual dimorphism (SD) is widespread, reflecting a resolution of genetic conflicts arising from sex-specific differences in selection. However, genetic correlations among traits may constrain the evolution of SD. Drosophila melanogaster exhibits SD for pupal period (males longer) and adult weight (females heavier). This negative inter-sex covariance between the traits contrasts with a significant intra-sex positive genetic correlation (r(g) = 0.95) estimated using lines selected for fast larval development. Path analysis indicated that within sexes the selection regime indirectly reduced adult weight which in turn reduced pupal period. A hypothesis is proposed for the evolution of SD whereby the trait 'pupal period' is divided into 'intrinsic' (correlated with body size) and 'ecological' (uncorrelated with body size) components, and (the larger) females eclose earlier than males size via a shortening of the ecological component, thus achieving the advantage of provisioning eggs prior to sexual maturity. This hypothesis avoids invoking successful 'incompatible antagonistic selection'.

Analysis of Variance↗

PubMed2005

Quantitative trait loci for lipid content in Drosophila melanogaster.

Recombinant inbred lines derived from a natural population were used to investigate natural genetic variation for lipid abundance, protein abundance, and weight of Drosophila melanogaster. Females were heavier and contained more lipid and soluble protein than males. Lipid and protein abundance were genetically correlated with female weight, but male weight was not correlated with lipid or protein. Lipid and protein abundance were genetically correlated in males, but not in females. Quantitative trait loci (QTLs) for weight and protein abundance were predominantly on the X chromosome, whereas QTLs for lipid abundance were found on the second and third chromosomes. QTLs for lipid proportion (lipid abundance normalized by weight or protein abundance) were present on all chromosomes; a lipid proportion QTL on the third chromosome correlated with a QTL for starvation resistance observed in a previous study using the same set of recombinant inbred lines, suggesting that it might underlie both traits. Candidate genes are discussed in relationship to lipid abundance, lipid proportion, and starvation resistance.

Animals↗

PubMed2026

Genetic architecture of endometriosis: risk factors, comorbidities and clinical implications.

BACKGROUND: In 1999, Dr Susan Treloar and colleagues conducted a landmark twin study in Australia and reported their estimate of 51% for the heritability of endometriosis. This important result led several groups to begin mapping genetic factors contributing to increased endometriosis risk. Despite early challenges, advances in genome-wide association studies (GWAS) have identified multiple genetic risk factors and some target genes implicated in follow-up studies on genetic regulation of transcription. Access to large publicly available genetic datasets and analysis with endometriosis GWAS results is also providing new opportunities to answer important questions about comorbid conditions associated with endometriosis and their implications for clinical practice. OBJECTIVE AND RATIONALE: The objective of the review is to summarize the last 25 years of genetic studies in endometriosis, outline contributions to our understanding of the disease, and suggest future directions to accelerate biological insights from genetic studies to improve clinical outcomes. SEARCH METHODS: A comprehensive review of scientific literature on the genetics of endometriosis was conducted through searches in PubMed and Google Scholar up to June 2026. Search terms included "endometriosis AND (genetics OR GWAS OR genetic risk factors)", For studies addressing the functional characterization of genetic risk loci, additional searches employed the terms "endometriosis AND (genotype-phenotype associations OR colocalization OR eQTL OR mQTL OR multi omics methods)". To identify studies examining shared genetic risk between endometriosis and comorbid conditions, the search strategy included "endometriosis AND (genetic correlation OR colocalization OR Mendelian randomisation)". Publications reporting discoveries related to genetic risk factors for endometriosis and studies interpreting their biological and clinical significance were critically evaluated, and 144 publications were discussed in the review. OUTCOMES: Discovery of genetic risk factors started slowly and has accelerated in recent years with developments in technology and international collaborations to combine data and increase statistical power. GWAS have mapped 80 genetic risk factors that implicate gene regulation of hormonal targets, development of the reproductive tract, regulation of cell proliferation, and regulation of epithelial cell differentiation. In common with most other complex diseases, effects of individual common genetic risk factors are small. However, several examples demonstrate that small effect sizes are not a good predictor for the impact of drugs developed against genetically validated targets. Genetic risk factors implicate five genes regulating gonadotrophin release and oestrogen action, the major target pathway of current drugs for treatment of endometriosis demonstrating proof-of-principal for biologically meaningful results. Genetic correlation and Mendelian Randomization studies highlight important causal relationships between endometriosis and comorbid conditions including a possible role for testosterone during development and shared genetic risk factors for gynaecological, gastrointestinal, pain, psychiatric, and inflammatory conditions. Understanding causal relationships between endometriosis and related conditions will aid clinical management and more personalized treatments. WIDER IMPLICATIONS: Genetic studies provide novel insights into endometriosis pathogenesis and associations with related comorbid conditions. Genetic factors modifying gene regulation and disease risk likely act in specific cell types, and access to datasets from genetically informed cell-based models, single-cell and spatial omics data are needed to accelerate progress. Future studies should address critical questions of heterogeneity and disease subtypes, expand the search for genetic risk factors to non-European populations, evaluate the role of rare and structural variants, and better integrate data from functional, genomics, genetics, and clinical studies to reduce diagnostic delay, develop novel treatment strategies, and translate discoveries into personalized management strategies for affected individuals. REGISTRATION NUMBER: N/A.

comorbid conditions↗

PubMed2003

Modeling lactation curves and estimation of genetic parameters for first lactation test-day records of French Holstein cows.

Several functions were used to model the fixed part of the lactation curve and genetic parameters of milk test-day records to estimate using French Holstein data. Parametric curves (Legendre polynomials, Ali-Schaeffer curve, Wilmink curve), fixed classes curves (5-d classes), and regression splines were tested. The latter were appealing because they adjusted the data well, were relatively insensitive to outliers, were flexible, and resulted in smooth curves without requiring the estimation of a large number of parameters. Genetic parameters were estimated with an Average Information REML algorithm where the average information matrix and the first derivatives of the likelihood functions were pooled over 10 samples. This approach made it possible to handle larger data sets. The residual variance was modeled as a quadratic function of days in milk. Quartic Legendre polynomials were used to estimate (co)variances of random effects. The estimates were within the range of most other studies. The greatest genetic variance was in the middle of the lactation while residual and permanent environmental variances mostly decreased during the lactation. The resulting heritability ranged from 0.15 to 0.40. The genetic correlation between the extreme parts of the lactation was 0.35 but genetic correlations were higher than 0.90 for a large part of the lactation. The use of the pooling approach resulted in smaller standard errors for the genetic parameters when compared to those obtained with a single sample.

Animals↗

PubMed1998

Genetic and environmental contributions to the association between quantitative ultrasound and bone mineral density measurements: a twin study.

This study was designed to assess the relative contributions of genetic and environmental factors to the variation and covariation of quantitative ultrasound (QUS) measurements and their relationships to bone mineral density (BMD). Forty-nine monozygotic (MZ) and 44 dizygotic (DZ) female twins between 20 and 83 years of age (53 +/- 13 years, mean +/- SD) were studied. Digital (phalangeal) QUS (speed of sound [SOS]) and calcaneal QUS (broadband ultrasound attenuation [BUA] and velocity of sound [VOS]) were measured using a DBM Sonic 1200 ultrasound densitometer and a CUBA ultrasound densitometer, respectively. Femoral neck (FN), lumbar spine (LS), and total body (TB) BMD were measured using dual-energy X-ray absorptiometry. Familial resemblance and hence heritability (proportion of variance of a trait attributable to genetic factors) were assessed by analysis of variance, univariate, and multivariate model-fitting genetic analyses. In both QUS and BMD parameters, MZ twins were more alike than DZ pairs. Estimates of heritability for age- and weight-adjusted BUA, VOS, and SOS were 0.74, 0.55, and 0.82, respectively. Corresponding indices of heritability for LS, FN, and TB BMD were 0.79, 0.77, and 0.82, respectively. In cross-sectional analysis, both BUA and SOS, but not VOS, were independently associated with BMD measurements. However, analysis based on intrapair differences suggested that only BUA was related to BMD. Bivariate genetic analysis indicated that the genetic correlations between BUA and BMD ranged between 0.43 and 0.51 (p < 0.001), whereas the environmental correlations ranged between 0.20 and 0.28 (p < 0.01). While the genetic correlations within QUS and BMD measurements were significant, factor analysis indicates that common genes affect BMD at different sites. Also, individual QUS measurements appear to be influenced by some common sets of genes rather than by environmental factors. Significant environmental correlations were only found for BMD measurements and ranged between 0.50 and 0.65 (p < 0.001). These data suggest that QUS and BMD measurements are highly heritable traits. While it appears that there is a common set of genes influencing both QUS and BMD measurements, specific genes yet to be identified appear to have greater effects than that of shared genes in each trait.

Absorptiometry, Photon↗

PubMed1980

A segmented line regression procedure to describe growth in beef cows.

Three segmented linear regression lines were fitted simultaneously to regress weight of Polled Hereford female cattle on age. Resulting parameter estimates from the procedure measure size and rates of gain. Sire and year of birth had the greatest effects on growth traits before growth rate slowed when heifers were approximately 17 months of age but had less effect in later life. Genetic correlations between weights at all ages were positive, as were genetic correlations between degrees of maturity at all ages. Animals taking longer to reach mature weights had greater mature weights. Degree of maturity and weight were positively correlated at a given age, but changed to negative as the age interval between weight and degree of maturity increased. Animals more mature at any age grew slower until they reached full maturity.

Animals↗

PubMed2004

Number of arginine-vasopressin neurons in the suprachiasmatic nuclei is not related to level or circadian characteristics of wheel-running activity in house mice.

House mouse lines bidirectionally selected for nest-building behavior show a correlation between number of AVP cells in the suprachiasmatic nuclei (SCN), the master circadian clock in mammals, and level of nest-building behavior as well as a correlation between wheel-running activity and SCN AVP content. Similar genetic correlations between wheel-running activity and nest-building behavior have been reported in house mouse lines selected for increased voluntary wheel-running behavior. These similarities in genetic correlation structure in independently selected mouse lines allowed us to test whether AVP in the SCN and wheel running activity are truly correlated traits under identical testing procedures. In the mouse lines selected for voluntary wheel-running, no difference was found between the lines selected for high levels of voluntary wheel-running and randomly-bred control lines in the number of AVP immunoreactive neurons in the SCN ( F1,6 = 0.09, NS; replicate line effect: F1,22 = 0.05, NS). This finding was confirmed at the level of individual variation, which revealed no relationship between number of AVP neurons in the SCN and total daily activity ( R = -0.086, NS, n = 24), or circadian organization (i.e., the chi-squared periodogram waveform amplitude; R = -0.071, NS). Therefore our data do not support the hypothesis that differences in activity level and the circadian expression of activity in young adult mice are related to differences in the number of AVP-immunoreactive cells in the SCN.

Animals↗

PubMed2026

GWAS meta-analysis provides new insights into uveal melanoma risk.

OBJECTIVE: The aim of this research is to identify germline genetic variants that predispose to uveal melanoma (UM) using data from nine studies involving 5839 individuals with UM (3853 novel) and 349,863 healthy controls. METHODS: Five novel UM genome-wide association studies (GWAS) were performed and included for meta-analysis with four previously published UM GWAS. A fixed-effects inverse-variance weighted (IVW) meta-analysis was performed by combining data from these nine UM case-control cohorts. A follow-up transcriptome-wide association study (TWAS) was conducted to identify candidate target genes at UM risk loci. Genetic correlations with melanoma-related phenotypes were measured to elucidate UM's genetic architecture. RESULTS: We identify nine linkage disequilibrium (LD)-independent loci (three novel) with an IVW P value of less than 5 × 10-8. TWAS analysis indicates five potential target genes, including MOB3B, RBAK, and MTSS1, which have established links to multiple cancer types. We note a significant genetic correlation (rg = 0.31, P = 0.01) between UM and cutaneous melanoma (CM), and a non-significant but consistent correlation with naevus count (rg = 0.25, P = 0.08). CONCLUSIONS: This meta-analysis offers new insights into the genetic architecture of UM, highlights potential therapeutic targets, and explores the genetic relationship with CM and skin pigmentation.

Humans↗